ClinVar Miner

Submissions for variant NM_000057.4(BLM):c.2307+10T>G

gnomAD frequency: 0.00001  dbSNP: rs755168095
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000872918 SCV001014811 likely benign Bloom syndrome 2024-01-12 criteria provided, single submitter clinical testing

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